ClinVar Miner

List of variants studied for childhood-onset nemaline myopathy by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_001100.3(ACTA1):c.413T>A (p.Ile138Asn) rs587780271
NM_001100.3(ACTA1):c.515C>A (p.Ala172Glu) rs587780272
NM_001100.3(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001271208.2(NEB):c.1471-1G>A rs1553605995
NM_001271208.2(NEB):c.18597del (p.Tyr6200fs) rs797045735
NM_001271208.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs) rs587780397
NM_001271208.2(NEB):c.2211+5G>T rs797045736
NM_001271208.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001271208.2(NEB):c.25101del (p.Gln8368fs) rs1553526884
NM_001271208.2(NEB):c.3567+1G>A rs587780399
NM_001271208.2(NEB):c.3774+1G>A rs111293259
NM_003289.3(TPM2):c.412_414GAG[1] (p.Glu139del) rs199476153

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